EVC Chromosome 4
EvC ciliary complex subunit 1
Upload your DNA to see your personal genotypes for variants in EVC.
What This Gene Does
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
EVC-related disorder
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Short-rib thoracic dysplasia 6 with or without polydactyly
Hepatocellular carcinoma
EVC-associated disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Key Variants
RS1035520087
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS113002470
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS115507440
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1219807707
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder
Health Risk
RS1237999856
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS1252318929
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS1314509668
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS1361442490
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1373148885
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1373632260
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS138808610
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS139157869
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
All Variants (342)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202236029 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS35401386 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC-related disorder |
| RS35926225 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS370315662 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS372312182 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS373726507 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS373862588 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS375743004 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS375960614 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS41269549 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS41269557 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS535012160 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS550100215 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS550411377 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS571809727 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS574700297 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS61514191 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS745558003 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS749008952 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS749142395 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS751678723 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS753317536 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS754135892 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS754532508 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS756852655 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS758352741 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS758387379 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS762716384 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Curry-Hall syndrome |
| RS766938849 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS769206763 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS771560788 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS773917688 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS777024713 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS780164400 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS781705295 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS866226288 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC-related disorder |
| RS867155796 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS886044558 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC-related disorder |
| RS896581899 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS921573510 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS932851648 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS939779373 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS952757087 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS967986192 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1057517899 | Health Risk | Likely pathogenic | — |
| RS1293098417 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Clear cell carcinoma of kidney |
| RS1300178432 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1363547577 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1388794781 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS139263450 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |